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X连锁无丙种球蛋白血症
释义
X连锁无丙种球蛋白血症
Encyclopedia
医学
原发性B细胞缺陷
释
X-linked agammaglobulinemia,XLA
X连锁无丙种球蛋白血症
在B细胞分化成熟的早期,X染色体上Bruton酪氨酸激酶(Btk)基因突变或缺失,使前B细胞信号转导受阻,分化和成熟发生障碍,不能合成免疫球蛋白的原发性B细胞免疫缺陷病。又称布鲁顿无丙种球蛋白血症、Bruton病。是最常见的以抗体缺陷为主的原发性免疫缺陷病。
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